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PRENATAL IDENTIFICATION OF A HETEROZYGOUS STATUS IN TWO FETUSES AT RISK FOR GLUCOSE–GALACTOSE MALABSORPTION
Author(s) -
MARTÍN MARTÍN G.,
TURK ERIC,
KERNER CYNTHIA,
ZABEL BERNARD,
WIRTH STEFAN,
WRIGHT ERNEST M.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199605)16:5<458::aid-pd873>3.0.co;2-u
Subject(s) - malabsorption , prenatal diagnosis , fetus , medicine , galactose , intestinal malabsorption , pregnancy , identification (biology) , obstetrics , malabsorption syndromes , endocrinology , biology , genetics , biochemistry , disease , coeliac disease , botany
Glucose–galactose malabsorption (GGM) is an autosomal recessive disorder which presents with severe osmotic diarrhoea shortly after birth. Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na + ‐dependent glucose/galactose cotransporter (SGLT1) that accounts for the defect in sugar absorption. Prenatal screening for GGM was performed in two subsequent pregnancies in this large consanguineous family. The first exon of the SGLT1 gene was PCR‐amplified from genomic DNA and screened for the presence of the D28N mutation by EcoRV restriction digestion. The proband's sibling was heterozygous and a cousin was not a carrier of the D28N mutation. Both children at 2‐years of age remain healthy and have had no diarrhoeal symptoms. Molecular biology techniques will allow a prospective determination of the presence of an abnormal SGLT1 allele and potentially decrease the postnatal morbidity.